A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974906



Internal ID19700160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73906149..74246775hg38UCSC Ensembl
chr4:74771866..75112492hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38340627
hg19340627
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4104467
Supporting Variants
Samples
Known GenesCXCL2, CXCL3, CXCL5, MTHFD2L, PF4, PPBP, PPBPP2
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15974906
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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